Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02737:Gtf2f1'

305688

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2f1

Ensembl Gene

ENSMUSG00000002658

Gene Name

general transcription factor IIF, polypeptide 1

Synonyms

2810405L04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02737

Quality Score

Status

Chromosome

Chromosomal Location

57310405-57318288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57310918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 410 (Q410K)

Ref Sequence

ENSEMBL: ENSMUSP00000002733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]

AlphaFold

Q3THK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002733
AA Change: Q410K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658
AA Change: Q410K

Domain	Start	End	E-Value	Type
Pfam:TFIIF_alpha	2	508	2.6e-200	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000002737

SMART Domains

Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	64	203	8.2e-14	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000002740

SMART Domains

Protein: ENSMUSP00000002740
Gene: ENSMUSG00000002664

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TGFB	66	155	1.24e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074141

SMART Domains

Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	63	145	3.8e-12	PFAM
low complexity region	148	161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149632

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,566,904 (GRCm39)	H434Q	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,555 (GRCm39)	I50L	probably benign	Het
Ahnak	G	A	19: 8,981,957 (GRCm39)	M1080I	probably benign	Het
Aoc1	A	G	6: 48,884,577 (GRCm39)	K540R	probably benign	Het
Aplp2	T	C	9: 31,064,712 (GRCm39)	M585V	probably benign	Het
C3	A	G	17: 57,511,281 (GRCm39)	L1607P	probably benign	Het
C6	A	G	15: 4,826,396 (GRCm39)	K660E	probably benign	Het
Cabin1	T	C	10: 75,549,419 (GRCm39)	T1329A	probably benign	Het
Ccdc141	T	A	2: 76,888,268 (GRCm39)	N499I	probably damaging	Het
Cdh5	A	G	8: 104,869,560 (GRCm39)	D762G	probably damaging	Het
Cep152	T	C	2: 125,428,394 (GRCm39)	R746G	possibly damaging	Het
Cps1	A	T	1: 67,187,933 (GRCm39)	Q198L	probably benign	Het
Cstpp1	T	A	2: 91,135,142 (GRCm39)	Q9L	probably damaging	Het
Eri3	T	C	4: 117,422,057 (GRCm39)	F112L	probably damaging	Het
Fam180a	C	A	6: 35,290,488 (GRCm39)	R165L	probably benign	Het
Fkbp10	A	C	11: 100,313,481 (GRCm39)	I252L	probably benign	Het
Hmcn1	T	C	1: 150,439,579 (GRCm39)	Y5535C	probably damaging	Het
Ifrd2	T	A	9: 107,469,369 (GRCm39)	D372E	probably benign	Het
Il3ra	A	G	14: 14,350,760 (GRCm38)	N165S	probably benign	Het
Kntc1	A	G	5: 123,957,183 (GRCm39)	N2164S	probably benign	Het
Krtap19-9a	A	G	16: 88,721,099 (GRCm39)		noncoding transcript	Het
Nopchap1	T	A	10: 83,200,309 (GRCm39)	M90K	probably damaging	Het
Or12d13	T	A	17: 37,647,664 (GRCm39)	H153L	possibly damaging	Het
Pclo	T	C	5: 14,764,177 (GRCm39)	S4217P	unknown	Het
Ppfibp1	G	A	6: 146,928,806 (GRCm39)	V798I	probably damaging	Het
Prune2	A	T	19: 17,170,775 (GRCm39)	R165*	probably null	Het
Ptges	T	C	2: 30,782,698 (GRCm39)	Y118C	probably damaging	Het
Rab11fip5	C	A	6: 85,325,540 (GRCm39)	G289W	probably damaging	Het
Rfc1	T	C	5: 65,468,506 (GRCm39)	D69G	possibly damaging	Het
Scube1	A	G	15: 83,606,044 (GRCm39)		probably benign	Het
Slc5a6	G	A	5: 31,194,511 (GRCm39)	P565L	probably benign	Het
Sncaip	C	A	18: 53,040,128 (GRCm39)	T774K	probably benign	Het
Spata31f1a	C	A	4: 42,849,431 (GRCm39)	L908F	possibly damaging	Het
Specc1l	G	A	10: 75,082,158 (GRCm39)	S535N	probably damaging	Het
Tbk1	C	T	10: 121,395,767 (GRCm39)	G442E	probably null	Het
Thoc7	A	T	14: 13,953,443 (GRCm38)	M78K	possibly damaging	Het
Usp15	A	G	10: 122,966,937 (GRCm39)	F461S	probably damaging	Het
Vmn2r6	T	A	3: 64,463,911 (GRCm39)	I308L	possibly damaging	Het
Zhx2	C	A	15: 57,685,663 (GRCm39)	T344N	probably damaging	Het

Other mutations in Gtf2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02752:Gtf2f1	APN	17	57,316,682 (GRCm39)	unclassified	probably benign
IGL03022:Gtf2f1	APN	17	57,317,971 (GRCm39)	splice site	probably null
IGL03094:Gtf2f1	APN	17	57,314,049 (GRCm39)	missense	probably damaging	1.00
R0242:Gtf2f1	UTSW	17	57,310,802 (GRCm39)	missense	probably benign	0.26
R0242:Gtf2f1	UTSW	17	57,310,802 (GRCm39)	missense	probably benign	0.26
R0480:Gtf2f1	UTSW	17	57,311,307 (GRCm39)	critical splice donor site	probably null
R1255:Gtf2f1	UTSW	17	57,317,982 (GRCm39)	missense	probably damaging	1.00
R2270:Gtf2f1	UTSW	17	57,310,462 (GRCm39)	missense	probably null	0.00
R4209:Gtf2f1	UTSW	17	57,318,003 (GRCm39)	missense	probably benign	0.01
R4637:Gtf2f1	UTSW	17	57,311,534 (GRCm39)	missense	probably benign	0.20
R5102:Gtf2f1	UTSW	17	57,310,626 (GRCm39)	missense	probably damaging	1.00
R5103:Gtf2f1	UTSW	17	57,311,519 (GRCm39)	missense	probably damaging	0.97
R6167:Gtf2f1	UTSW	17	57,311,161 (GRCm39)	missense	probably damaging	1.00
R6707:Gtf2f1	UTSW	17	57,314,770 (GRCm39)	missense	probably benign	0.00
R7254:Gtf2f1	UTSW	17	57,314,101 (GRCm39)	missense	possibly damaging	0.85
R7259:Gtf2f1	UTSW	17	57,311,562 (GRCm39)	missense	probably damaging	0.96
R7307:Gtf2f1	UTSW	17	57,314,833 (GRCm39)	missense	probably damaging	1.00
R7683:Gtf2f1	UTSW	17	57,312,458 (GRCm39)	missense	possibly damaging	0.94
R9727:Gtf2f1	UTSW	17	57,318,005 (GRCm39)	missense	possibly damaging	0.75
R9765:Gtf2f1	UTSW	17	57,318,125 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16